Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sleep patterns and respiratory function during sleep were studied in five nonambulatory boys with Duchenne muscular dystrophy to clarify why patients with this disease awaken frequently at night. It was hypothesized that hypoxemia during sleep due to severe restrictive lung disease might cause nighttime arousals. Each boy underwent electroencephalography, electro-oculography and electromyography. Also determined were arterial oxyhemoglobin saturation, airflow from the nose and mouth, chest and abdominal excursions, and carbon dioxide tension of exhaled breaths. All five subjects had pulmonary function abnormalities consistent with severe restrictive lung disease and respiratory muscle weakness but none had evidence of respiratory failure or cor pulmonale. The boys awakened three times more frequently than age-matched published norms and experienced sleep stage shifts twice as often as normal children. Rapid-eye movement (REM) sleep as a proportion of total sleep was significantly reduced; sleep stage I was increased compared to normal values. No subject developed oxyhemoglobin desaturation during sleep. End-tidal CO2 tensions rose during sleep stages I, II and V (REM) in association with reduced chest wall excursion, suggesting transient episodes of mild hypoventilation which were not associated with arousals. Sleep fragmentation, frequent arousals and REM sleep deprivation occur in some boys with Duchenne muscular dystrophy but are not associated with significant disorders in breathing during sleep.
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PMID:Sleep patterns in nonambulatory boys with Duchenne muscular dystrophy. 407 15

In Duchenne muscular dystrophy, as in other genetic diseases, there must be a biochemical abnormality. This fundamental genetic fault has not been identified, but several indirect lines of evidence suggest that the surface membranes of skeletal muscle are affected. The biochemical evidence implies abnormal egress of soluble enzymes and other proteins from muscle, abnormal permeability, and altered properties of membrane-bound enzymes. As a result of the presumed genetic abnormality, functional properties are altered, and impaired regulation of intracellular calcium content could be responsible for the hallmarks of the disease--progressive weakness and degeneration of muscle. The evidence is by no means conclusive, however, and some of it is contradictory. Technical advances must be made before isolated membranes can be characterized biochemically. Other theories are also being evaluated.
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PMID:Biochemistry of muscle membranes in Duchenne muscular dystrophy. 644 3

The problems of upper limb weakness in young people with Duchenne muscular dystrophy are not generally appreciated. In a series of 12 young people it was found that the strengths of the shoulder and elbow muscles were approximately 4% of those of a normal control group. A counterweight and a motorised system of arm suspension is described which permits the young person to make proper use of their arms.
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PMID:Upper limb weakness in children with Duchenne muscular dystrophy--a neglected problem. 648 91

Twelve girls and 2 boys with severe but not congenital muscular dystrophy were found in a national survey. An autosomal recessive gene is likely to account for most if not all of these cases. The condition differs slightly from X-linked Duchenne muscular dystrophy in showing prominent early toe-walking, a milder course, relatively more weakness of the deltoid muscles, normal intelligence, a normal ECG and a more focal pattern of muscle pathology.
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PMID:Severe muscular dystrophy in girls. 673 6

Physical methods of treatment for neuromuscular diseases constitute the mainstay of current management. The overall goals of management are the maintenance of independent ambulation and the optimal functional state consistent with the disease process. Maintenance of muscle strength requires regular daily physical activity. An active exercise program can give limited increases of strength in muscular dystrophy dependent on the severity of the disease. Active exercise programs do not result in overwork weakness when properly supervised. Endurance exercise training does not appear to be suitable for Duchenne muscular dystrophy but may have value in the less rapidly progressive neuromuscular diseases. contracture development can be retarded by passive stretching and splinting initiated early in the disease course. Weight control is important both for ambulatory and wheelchair-bound patients. Reliable assessment of the results of physical therapy programs has been improved by the introduction of newer, more objective methods for measuring muscle strength.
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PMID:Physical models of rehabilitation in neuromuscular disease. 688 14

Forty-six separate gait studies were analysed for 21 ambulatory patients with Duchenne muscular dystrophy. Three groups were defined on the basis of significant gait variables: early, transitional and late. Disease progression can be predicted with 91 per cent accuracy by three gait variables: cadence, dorsiflexion in swing, and anterior pelvic tilt. The patients in the early group manifested a positive Gower's sign but gait changes were subtle, being principally slightly increased hip flexion in swing, decreased dorsiflexion in swing and reduction in cadence. The force line moved in front of the knee center early in single-limb support. In the transitional stage, anterior pelvic tilt was exaggerated, cadence was further reduced, and foot drop in swing phase was increased. Shoulder sway was noted as a compensation for gluteus medius weakness. The base of support widened. The force line remained behind the hip joint and in front of the knee joint throughout single-limb support. In the late stage, work output increased, cadence continued to drop, shoulder sway increased further, and there was a wider base of support. The force line remained very close to the center of the hip and in front of the knee at all times during single-limb support. The authors' conclusions are: (1) the earliest postural change in gait is increased lumbar lordosis secondary to gluteus maximus weakness, and at this time the quadriceps are relatively competent; (2) quadriceps insufficiency was the key factor in gait deterioration. It appeared in the transitional stage and was characterized by exaggerated anterior pelvic tilt, restricted hip extension in stance phase, equinus posturing, and maintenance of the force line in front of the knee throughout single-limb support. Long-leg bracing is indicated when these signs of quadriceps insufficiency are noted.
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PMID:The pathomechanics of gait in Duchenne muscular dystrophy. 720 68

Recent psychological testing and neuropathologic studies support the occurrence of relative retardation, an in some cases severe retardation, in patients with Duchenne muscular dystrophy. Muscle deterioration and wasting are associated with the natural progression of the disease. Progressive physical weakness can be described in the following stages: early, walking, wheelchair, and late. The more emotionally mature the family, the more effective they are in coping at each stage of the disease. Nevertheless, a constant stress is present in all families. This stress can increase or plateau at the various stages and as new problems are encountered. When mental retardation is significant, the stress on the family become even more marked.
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PMID:Challenges in the care of the retarded child with Duchenne muscular dystrophy. 720 93

Balance in double stance was measured on a force platform with an X-Y Plotter (stabilograph) in 57 healthy boys aged 5 to 10 years and in 13 children with Duchenne muscular dystrophy (DMD), aged 6 to 15 years. Horizontal excursions of the center of gravity were measured in the anteroposterior (AP) and right-left (RL) planes. Measurements superimposed upon foot position tracings were compared with a potential excursion defined by the outer margin of foot position. Balancing ability was expressed as a ratio of measured excursion to potential maximal excursion. The objective was to determine whether a quantitative functional measure relating to muscle weakness and standing could be obtained. The mean ratio of AP excursions for healthy children was 0.5 (range 0.29 to 0.7); for dystrophic children 0.29 (range 0.07 to 0.57). The mean ratio of RL excursions for healthy children was 0.57 (range 0.23 to 0.77); for dystrophic children 0.36 (range 0.1 to 0.63). These ratios tended to increase with age in healthy children but decreased in those with dystrophy. DMD children have less ability to move the horizontal center of gravity within the base of support on double stance than their healthy peers of comparable age. Stabilography may be useful not only for assessing balance and documenting its deterioration but also for evaluating the effectiveness of treatment in DMD.
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PMID:Standing balance in healthy boys and in children with Duchenne muscular dystrophy. 724 59

Three cases from 2 families had muscle weakness with predilection for distal extremities, predominantly affecting the tibialis anterior muscles, and onset in early adulthood. The disorder seemed to be inherited through an autosomal recessive trait. The EMG demonstrated a myopathic pattern and CPK was mildly elevated. The striking finding in their muscle biopsies was the presence of "rimmed" vacuoles which had acid phosphatase-positive autophagic activity and which contained numerous concentric lamellar bodies in various forms (myeloid and cabbage bodies). Despite rapid clinical progression, not only necrotic fibers with phagocytosis, as seen in Duchenne dystrophy, but also evidence of regeneration were virtually absent. Continuous destruction of myofibrils by activation of certain lysosomal proteolytic enzymes might be responsible for the production of atrophic fibers.
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PMID:Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. 725 18

Three manifesting carriers of Duchenne muscular dystrophy were examined clinically and histologically. All had muscle weakness in the upper and lower limbs without facial muscle involvement, onset being at the ages of 35, 19 and 25 years, respectively. Pseudohypertrophy of calves was evident in all cases. Biochemical, electrocardiographic and histological observations revealed the presence of myopathy in all cases. Sex chromatin patterns were normal. Compared with the manifesting carriers previously reported by others, at least one case showed more severe histological findings which were typical of the advanced stage of Duchenne muscular dystrophy. The cardiac involvement in three cases was moderate. A possible involvement of other factors besides Lyonization influencing the development of myopathy in the carriers is suggested.
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PMID:Clinically manifesting carriers in Duchenne muscular dystrophy. 729 49


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